Entity Name Entity type Gene Symbol Sources(; separated) Level4 Level3 Level2 Model_Of_Inheritance Phenotypes Omim Orphanet HPO Publications Description Flagged GEL_Status UserRatings_Green_amber_red version ready Mode of pathogenicity EnsemblId(GRch37) EnsemblId(GRch38) HGNC Position Chromosome Position GRCh37 Start Position GRCh37 End Position GRCh38 Start Position GRCh38 End STR Repeated Sequence STR Normal Repeats STR Pathogenic Repeats Region Haploinsufficiency Score Region Triplosensitivity Score Region Required Overlap Percentage Region Variant Type Region Verbose Name ABCA3 gene ABCA3 Emory Genetics Laboratory;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen;UKGTN Familial pulmonary fibrosis Interstitial lung disorders Respiratory disorders BIALLELIC, autosomal or pseudoautosomal Surfactant metabolism dysfunction, pulmonary, 3, 610921 24730976;15044640;26780485;25553246 False 3 100;0;0 1.32 False ENSG00000167972 ENSG00000167972 HGNC:33 ACD gene ACD Expert Review Green;Literature Familial pulmonary fibrosis Interstitial lung disorders Respiratory disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted ?Dyskeratosis congenita, autosomal dominant 6, OMIM:616553;?Dyskeratosis congenita, autosomal recessive 7, OMIM:616553 31515401;30995915;33446513 False 3 100;0;0 1.32 False ENSG00000102977 ENSG00000102977 HGNC:25070 AP3B1 gene AP3B1 Emory Genetics Laboratory;Expert Review Green Familial pulmonary fibrosis Interstitial lung disorders Respiratory disorders BIALLELIC, autosomal or pseudoautosomal Pulmonary Fibrosis and Hermansky-Pudlak Syndrome;Hermansky-Pudlak syndrome 2, 608233;Pulmonary Disease;Pulmonary fibrosis 10024875;20301464 False 3 100;0;0 1.32 False ENSG00000132842 ENSG00000132842 HGNC:566 ASAH1 gene ASAH1 Emory Genetics Laboratory;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen Familial pulmonary fibrosis Interstitial lung disorders Respiratory disorders BIALLELIC, autosomal or pseudoautosomal Farber lipogranulomatosis, 228000 15331184 False 3 100;0;0 1.32 False ENSG00000104763 ENSG00000104763 HGNC:735 CSF2RA gene CSF2RA Emory Genetics Laboratory;Expert Review Green;Radboud University Medical Center, Nijmegen Familial pulmonary fibrosis Interstitial lung disorders Respiratory disorders BIALLELIC, autosomal or pseudoautosomal Surfactant metabolism dysfunction, pulmonary, 4, 300770;Pulmonary alveolar proteinosis 25425184 False 3 50;50;0 1.32 False ENSG00000198223 ENSG00000198223 HGNC:2435 CSF2RB gene CSF2RB Expert Review Green;Radboud University Medical Center, Nijmegen Familial pulmonary fibrosis Interstitial lung disorders Respiratory disorders BIALLELIC, autosomal or pseudoautosomal Surfactant metabolism dysfunction, pulmonary, 5, 614370;Pulmonary alveolar proteinosis 21075760;15331184 False 3 100;0;0 1.32 False ENSG00000100368 ENSG00000100368 HGNC:2436 DKC1 gene DKC1 Emory Genetics Laboratory;Expert Review Green;Radboud University Medical Center, Nijmegen Familial pulmonary fibrosis Interstitial lung disorders Respiratory disorders X-LINKED: hemizygous mutation in males, biallelic mutations in females Dyskeratosis congenita, X-linked, 305000;Dyskeratosis congenita associated with pulmonary fibrosis 9590285 False 3 100;0;0 1.32 False ENSG00000130826 ENSG00000130826 HGNC:2890 FAM111B gene FAM111B Expert Review Green;Literature Familial pulmonary fibrosis Interstitial lung disorders Respiratory disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown " Poikiloderma, hereditary fibrosing, with tendon contractures, myopathy, and pulmonary fibrosis 615704" 26495788 False 3 100;0;0 1.32 False ENSG00000189057 ENSG00000189057 HGNC:24200 FARSA gene FARSA Expert Review Green;Literature Familial pulmonary fibrosis Interstitial lung disorders Respiratory disorders BIALLELIC, autosomal or pseudoautosomal ?Rajab interstitial lung disease with brain calcifications 2, OMIM:619013 31355908;33598926 False 3 0;0;100 1.32 False ENSG00000179115 ENSG00000179115 HGNC:3592 FARSB gene FARSB Expert Review Green;Literature Familial pulmonary fibrosis Interstitial lung disorders Respiratory disorders BIALLELIC, autosomal or pseudoautosomal Rajab interstitial lung disease with brain calcifications, 613658 29573043;29979980;30014610 False 3 100;0;0 1.32 False ENSG00000116120 ENSG00000116120 HGNC:17800 GBA gene GBA Emory Genetics Laboratory;Expert Review Green;Radboud University Medical Center, Nijmegen;UKGTN Familial pulmonary fibrosis Interstitial lung disorders Respiratory disorders BIALLELIC, autosomal or pseudoautosomal Gaucher disease, type I, 230800;Gaucher disease with associated Pulmonary Fibrosis 15331184 False 3 100;0;0 1.32 False ENSG00000177628 ENSG00000177628 HGNC:4177 HPS1 gene HPS1 Emory Genetics Laboratory;Expert Review Green Familial pulmonary fibrosis Interstitial lung disorders Respiratory disorders BIALLELIC, autosomal or pseudoautosomal Hermansky-Pudlak syndrome 1, 203300;Pulmonary Fibrosis and Hermansky-Pudlak Syndrome;Pulmonary Disease;Hermansky-Pudlak Syndrome type 1 associated with pulmonary fibrosis 8896559;20301464 False 3 100;0;0 1.32 False ENSG00000107521 ENSG00000107521 HGNC:5163 HPS4 gene HPS4 Emory Genetics Laboratory;Expert Review Green Familial pulmonary fibrosis Interstitial lung disorders Respiratory disorders BIALLELIC, autosomal or pseudoautosomal Hermansky-Pudlak syndrome, 4, 614073;Pulmonary Fibrosis and Hermansky-Pudlak Syndrome;Pulmonary Disease;Hermansky-Pudlak Syndrome type 4, associated with pulmonary fibrosis 11836498;20301464 False 3 100;0;0 1.32 False ENSG00000100099 ENSG00000100099 HGNC:15844 ITGA3 gene ITGA3 Emory Genetics Laboratory;Expert Review Green;Radboud University Medical Center, Nijmegen;UKGTN Familial pulmonary fibrosis Interstitial lung disorders Respiratory disorders BIALLELIC, autosomal or pseudoautosomal Interstitial lung disease, nephrotic syndrome, and epidermolysis bullosa, congenital, 614748 22512483 False 3 100;0;0 1.32 False ENSG00000005884 ENSG00000005884 HGNC:6139 NKX2-1 gene NKX2-1 Emory Genetics Laboratory;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen Familial pulmonary fibrosis Interstitial lung disorders Respiratory disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Choreoathetosis, hypothyroidism, and neonatal respiratory distress, 610978;Associated with pulmonary fibrosis, but strong recurrent infection signal 9565498;19336474;23430038 False 3 100;0;0 1.32 False ENSG00000136352 ENSG00000136352 HGNC:11825 PARN gene PARN Eligibility statement prior genetic testing;Expert Review Green Familial pulmonary fibrosis Interstitial lung disorders Respiratory disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Pulmonary fibrosis and/or bone marrow failure, telomere-related, 4, OMIM:616371 25848748;26116823 False 3 100;0;0 1.32 False ENSG00000140694 ENSG00000140694 HGNC:8609 RTEL1 gene RTEL1 Eligibility statement prior genetic testing;Expert Review Green Familial pulmonary fibrosis Interstitial lung disorders Respiratory disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Pulmonary fibrosis and/or bone marrow failure, telomere-related, 3, 616373 25848748 False 3 100;0;0 1.32 False ENSG00000258366 ENSG00000258366 HGNC:15888 SFTPA2 gene SFTPA2 Expert Review Green;Radboud University Medical Center, Nijmegen Familial pulmonary fibrosis Interstitial lung disorders Respiratory disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Pulmonary fibrosis, idiopathic, 178500 20301408;19100526;26568241 False 3 50;50;0 1.32 False ENSG00000185303 ENSG00000185303 HGNC:10799 SFTPB gene SFTPB Eligibility statement prior genetic testing;Emory Genetics Laboratory;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen;UKGTN Familial pulmonary fibrosis Interstitial lung disorders Respiratory disorders BIALLELIC, autosomal or pseudoautosomal Surfactant metabolism dysfunction, pulmonary, 1, 265120 8163685;15331184 False 3 67;33;0 1.32 False ENSG00000168878 ENSG00000168878 HGNC:10801 SFTPC gene SFTPC Eligibility statement prior genetic testing;Emory Genetics Laboratory;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen;UKGTN Familial pulmonary fibrosis Interstitial lung disorders Respiratory disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Surfactant metabolism dysfunction, pulmonary, 2, 610913;Interstitial Lung Disease;Pulmonary alveolar proteinosis 20301408;11207353 False 3 100;0;0 1.32 False ENSG00000168484 ENSG00000168484 HGNC:10802 SLC34A2 gene SLC34A2 Expert Review Green;Literature;Radboud University Medical Center, Nijmegen Familial pulmonary fibrosis Interstitial lung disorders Respiratory disorders BIALLELIC, autosomal or pseudoautosomal Pulmonary alveolar microlithiasis, 265100 16960801; 15331184 False 3 100;0;0 1.32 False ENSG00000157765 ENSG00000157765 HGNC:11020 SLC7A7 gene SLC7A7 Emory Genetics Laboratory;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen Familial pulmonary fibrosis Interstitial lung disorders Respiratory disorders BIALLELIC, autosomal or pseudoautosomal Lysinuric protein intolerance, 222700 15331184;25335805 False 3 100;0;0 1.32 False ENSG00000155465 ENSG00000155465 HGNC:11065 SMPD1 gene SMPD1 Emory Genetics Laboratory;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen;UKGTN Familial pulmonary fibrosis Interstitial lung disorders Respiratory disorders BIALLELIC, autosomal or pseudoautosomal Niemann-Pick disease, type A 257200; Niemann-Pick disease, type B 607616 15331184;16623786 False 3 100;0;0 1.32 False ENSG00000166311 ENSG00000166311 HGNC:11120 TERC gene TERC Eligibility statement prior genetic testing;Expert Review Green Familial pulmonary fibrosis Interstitial lung disorders Respiratory disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted {Pulmonary fibrosis, idiopathic, susceptibility to}, 614743 20301408;17392301 False 3 100;0;0 1.32 False ENSG00000270141 ENSG00000270141 HGNC:11727 TERT gene TERT Eligibility statement prior genetic testing;Emory Genetics Laboratory;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen Familial pulmonary fibrosis Interstitial lung disorders Respiratory disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Pulmonary fibrosis and/or bone marrow failure, telomere-related, 1, OMIM:614742 20301408;17392301 False 3 100;0;0 1.32 False ENSG00000164362 ENSG00000164362 HGNC:11730 TINF2 gene TINF2 Expert Review Green;Illumina TruGenome Clinical Sequencing Services;Literature;Radboud University Medical Center, Nijmegen Familial pulmonary fibrosis Interstitial lung disorders Respiratory disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Dyskeratosis congenita, autosomal dominant, 3, 613990;Associated with dyskeratosis congenita and Fibrosis 18252230 False 3 100;0;0 1.32 False ENSG00000092330 ENSG00000092330 HGNC:11824 CASR gene CASR Emory Genetics Laboratory;Expert Review Amber;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen;UKGTN Familial pulmonary fibrosis Interstitial lung disorders Respiratory disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Hypocalciuric hypercalcemia, type I, 145980 15331184; 18296474; 2983592 False 2 0;100;0 1.32 False ENSG00000036828 ENSG00000036828 HGNC:1514 ZCCHC8 gene ZCCHC8 Expert Review Amber;Literature Familial pulmonary fibrosis Interstitial lung disorders Respiratory disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted ?Pulmonary fibrosis and/or bone marrow failure, telomere-related, 5, OMIM:618674 31488579 False 2 0;100;0 1.32 False ENSG00000033030 ENSG00000033030 HGNC:25265